ClinVar Miner

List of variants in gene LCA5 studied for Leber congenital amaurosis

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_001122769.3(LCA5):c.197G>A (p.Arg66Gln) rs35338066 0.02087
NM_001122769.3(LCA5):c.586C>T (p.Leu196=) rs114426854 0.00773
NM_001122769.3(LCA5):c.2026G>T (p.Asp676Tyr) rs143582502 0.00134
NM_001122769.3(LCA5):c.902G>A (p.Arg301His) rs139142572 0.00109
NM_001122769.3(LCA5):c.1579A>G (p.Ile527Val) rs75319738 0.00106
NM_001122769.3(LCA5):c.1843A>G (p.Ser615Gly) rs143030450 0.00087
NM_001122769.3(LCA5):c.1215T>G (p.Val405=) rs41270545 0.00050
NM_001122769.3(LCA5):c.1083A>G (p.Pro361=) rs367733392 0.00021
NM_001122769.3(LCA5):c.338A>G (p.Asn113Ser) rs181890907 0.00020
NM_001122769.3(LCA5):c.1097T>C (p.Leu366Ser) rs200988021 0.00019
NM_001122769.3(LCA5):c.1746C>T (p.Asn582=) rs183011135 0.00014
NM_001122769.3(LCA5):c.222A>T (p.Pro74=) rs148386543 0.00014
NM_001122769.3(LCA5):c.521G>A (p.Arg174His) rs144016257 0.00014
NM_001122769.3(LCA5):c.1550G>T (p.Arg517Ile) rs140706052 0.00009
NM_001122769.3(LCA5):c.1912A>G (p.Asn638Asp) rs371962473 0.00009
NM_001122769.3(LCA5):c.1019A>G (p.Lys340Arg) rs577692224 0.00008
NM_001122769.3(LCA5):c.858+5G>C rs200302979 0.00007
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165 0.00006
NM_001122769.3(LCA5):c.280C>T (p.Arg94Trp) rs771098708 0.00005
NM_001122769.3(LCA5):c.1862G>A (p.Ser621Asn) rs756929736 0.00004
NM_001122769.3(LCA5):c.595A>G (p.Thr199Ala) rs775866690 0.00004
NM_001122769.3(LCA5):c.705C>T (p.Thr235=) rs774718880 0.00004
NM_001122769.3(LCA5):c.*35del rs747368961 0.00003
NM_001122769.3(LCA5):c.1099-9G>A rs546754454 0.00003
NM_001122769.3(LCA5):c.1668C>T (p.Tyr556=) rs376479835 0.00003
NM_001122769.3(LCA5):c.827A>G (p.Lys276Arg) rs368131181 0.00003
NM_001122769.3(LCA5):c.897T>C (p.Ser299=) rs767145624 0.00003
NM_001122769.3(LCA5):c.706G>A (p.Glu236Lys) rs377719240 0.00002
NM_001122769.3(LCA5):c.238C>T (p.Arg80Ter) rs781035395 0.00001
NM_001122769.3(LCA5):c.250C>T (p.Arg84Cys) rs750430540 0.00001
NM_001122769.3(LCA5):c.439C>T (p.Leu147=) rs141291555 0.00001
NM_001122769.3(LCA5):c.73T>C (p.Ser25Pro) rs199902236 0.00001
NM_001122769.3(LCA5):c.*22dup rs767286706
NM_001122769.3(LCA5):c.-251G>A rs886061793
NM_001122769.3(LCA5):c.1101C>T (p.Asp367=) rs1769766843
NM_001122769.3(LCA5):c.1151del (p.Pro384fs) rs386834252
NM_001122769.3(LCA5):c.1171A>T (p.Lys391Ter) rs765473119
NM_001122769.3(LCA5):c.1267G>C (p.Glu423Gln) rs777920075
NM_001122769.3(LCA5):c.165T>G (p.Thr55=) rs534076319
NM_001122769.3(LCA5):c.1676C>A (p.Ser559Ter) rs766143193
NM_001122769.3(LCA5):c.1805C>G (p.Ala602Gly) rs1769692203
NM_001122769.3(LCA5):c.469A>G (p.Ile157Val) rs901281230
NM_001122769.3(LCA5):c.484T>C (p.Phe162Leu) rs533963525
NM_001122769.3(LCA5):c.516_519del (p.Lys172fs) rs1286660951
NM_001122769.3(LCA5):c.550del (p.Ala184fs) rs2127680021
NM_001122769.3(LCA5):c.744_750del (p.Ser249fs) rs1769904494
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter) rs866395428

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